Canonical Allele Identifier: CA9278166

Gene: CALR3

Linked Data

• ClinVar Variation Id: 539147
• ClinVar RCV Id: RCV000648822 ; RCV004025758
• dbSNP Id: rs140440387
• ExAC: 19:16589983 C / G
• gnomAD v2: 19-16589983-C-G
• gnomAD v3: 19-16479172-C-G
• gnomAD v4: 19-16479172-C-G
• MyVariant Identifiers: chr19:g.16589983C>G (hg19) ; chr19:g.16479172C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.16479172C>G , CM000681.2:g.16479172C>G	GRCh38
NC_000019.9:g.16589983C>G , CM000681.1:g.16589983C>G	GRCh37
NC_000019.8:g.16450983C>G	NCBI36
NG_031959.2:g.154033G>C , LRG_422:g.154033G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269881.8:c.1114G>C MANE Select	ENSP00000269881.3:p.Glu372Gln
ENST00000269881.7:c.1114G>C	ENSP00000269881.2:p.Glu372Gln
ENST00000409035.1:c.*917G>C	ENSP00000386951.2:n.*917G>C
NM_145046.4:c.1114G>C , LRG_422t1:c.1114G>C	NP_659483.2:p.Glu372Gln
NM_145046.5:c.1114G>C MANE Select	NP_659483.2:p.Glu372Gln